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European Journal of Neurology
|
June 23, 2026
A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel
Dror Shir, Noa Bregman, Aya Bar David, et al.
Parkinsonism & Related Disorders
|
July 5, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study
Saar Anis, Caroline Weill, Penina Ponger, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 27, 2026
The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis
Leah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Brain : a Journal of Neurology
|
November 12, 2022
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease
Konstantin Senkevich, Cornelia E Zorca, Aliza Dworkind, et al.
HGG Advances
|
August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
James Chettle, Raymond J Louie, Olivia Larner, et al.
Research Square
|
April 2, 2024
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
Jace Jones-Tabah, Kathy He, Konstantin Senkevich, et al.
Biorxiv : the Preprint Server for Biology
|
November 28, 2023
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
Jace Jones-Tabah, Kathy He, Konstantin Senkevich, et al.
EMBO Molecular Medicine
|
April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Scientific Reports
|
September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Ben Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Molecular Neurodegeneration
|
November 26, 2024
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
Jace Jones-Tabah, Kathy He, Nathan Karpilovsky, et al.
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Search research articles
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Showing results (91-100 of 103) with videos related to
Sort By:
Page
of 11
European Journal of Neurology
|
June 23, 2026
A Practice Framework for Genetic Testing in Asymptomatic Relatives of Patients With Creutzfeldt-Jakob Disease: Experience and Insights From Israel
Dror Shir, Noa Bregman, Aya Bar David, et al.
Parkinsonism & Related Disorders
|
July 5, 2025
Genetic testing for Parkinson's disease in Israel: Insights from the Rostock Parkinson's Disease (ROPAD) study
Saar Anis, Caroline Weill, Penina Ponger, et al.
Medrxiv : the Preprint Server for Health Sciences
|
March 27, 2026
The <i>GBA1</i> p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis
Leah V Chifamba, Sitki Cem Parlar, Emma N Somerville, et al.
Brain : a Journal of Neurology
|
November 12, 2022
GALC variants affect galactosylceramidase enzymatic activity and risk of Parkinson's disease
Konstantin Senkevich, Cornelia E Zorca, Aliza Dworkind, et al.
HGG Advances
|
August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorder
James Chettle, Raymond J Louie, Olivia Larner, et al.
Research Square
|
April 2, 2024
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
Jace Jones-Tabah, Kathy He, Konstantin Senkevich, et al.
Biorxiv : the Preprint Server for Biology
|
November 28, 2023
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
Jace Jones-Tabah, Kathy He, Konstantin Senkevich, et al.
EMBO Molecular Medicine
|
April 4, 2023
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability
Direnis Erdinc, Alejandro Rodríguez-Luis, Mahmoud R Fassad, et al.
Scientific Reports
|
September 28, 2021
A single center experience with publicly funded clinical exome sequencing for neurodevelopmental disorders or multiple congenital anomalies
Ben Pode-Shakked, Ortal Barel, Amihood Singer, et al.
Molecular Neurodegeneration
|
November 26, 2024
The Parkinson's disease risk gene cathepsin B promotes fibrillar alpha-synuclein clearance, lysosomal function and glucocerebrosidase activity in dopaminergic neurons
Jace Jones-Tabah, Kathy He, Nathan Karpilovsky, et al.
Page
of 11